Description of a Novel Cardiac Phenotype Associated With a Missense Variant in the Cardiac &#945;-Actin (<i>ACTC1</i>) Gene.

Toledano-Delgado, Francisco Javier; Jimenez-Alcantara, Isabel; Cobo-Molinos, Jesus; Carrasco-Avalos, Francisco; Mazuelos, Francisco; Urbano-Moral, Jose Angel

Description of a Novel Cardiac Phenotype Associated With a Missense Variant in the Cardiac α-Actin (ACTC1) Gene.

Toledano-Delgado, Francisco Javier; Jimenez-Alcantara, Isabel; Cobo-Molinos, Jesus; Carrasco-Avalos, Francisco; Mazuelos, Francisco; Urbano-Moral, Jose Angel.

Afiliação

Toledano-Delgado FJ; Cardiology Department, Valle del Guadiato Hospital, Peñarroya-Pueblonuevo, Cordoba, Spain (F.J.T.-D.).
Jimenez-Alcantara I; Inherited Cardiac Conditions & Myocardial Diseases Unit, Jaen University Hospital, Jaen (I.J.-A., J.C.M., J.A.U.-M.).
Cobo-Molinos J; Inherited Cardiac Conditions & Myocardial Diseases Unit, Jaen University Hospital, Jaen (I.J.-A., J.C.M., J.A.U.-M.).
Carrasco-Avalos F; Department of Cardiology, Reina Sofia University Hospital, Cordoba, Spain (F.C.-A., F.M.).
Mazuelos F; Department of Cardiology, Reina Sofia University Hospital, Cordoba, Spain (F.C.-A., F.M.).
Urbano-Moral JA; Inherited Cardiac Conditions & Myocardial Diseases Unit, Jaen University Hospital, Jaen (I.J.-A., J.C.M., J.A.U.-M.).

Circ Genom Precis Med ; 16(2): e003963, 2023 04.

Article em En | MEDLINE | ID: mdl-36960733

Assuntos

Actinas; Mutação de Sentido Incorreto; Humanos; Actinas/genética; Coração; Fenótipo

Palavras-chave

actin; heart disease; hypertension; hypertrophic cardiomyopathy; phenotype

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Actinas / Mutação de Sentido Incorreto Tipo de estudo: Risk_factors_studies Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article

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